Linked Data
ClinVar Variation Id:
208258
ClinVar RCV Id:
RCV000206936
dbSNP Id:
rs763257568
ExAC:
19:12774595 G / A
gnomAD v2:
19-12774595-G-A
gnomAD v3:
19-12663781-G-A
gnomAD v4:
19-12663781-G-A
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12663781G>A , CM000681.2:g.12663781G>A | GRCh38 |
| NC_000019.9:g.12774595G>A , CM000681.1:g.12774595G>A | GRCh37 |
| NC_000019.8:g.12635595G>A | NCBI36 |
| NG_008318.1:g.7997C>T | |
| NG_015814.1:g.1978G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.685C>T MANE Select | ENSP00000395473.2:p.Arg229Trp | |
| ENST00000221363.8:c.685C>T | ENSP00000221363.4:p.Arg229Trp | |
| ENST00000456935.6:c.685C>T | ENSP00000395473.2:p.Arg229Trp | |
| ENST00000466794.5:n.667C>T | ||
| ENST00000486847.2:c.388C>T | ENSP00000470174.1:p.Arg130Trp | |
| NM_000528.3:c.685C>T | NP_000519.2:p.Arg229Trp | |
| NM_001173498.1:c.685C>T | NP_001166969.1:p.Arg229Trp | |
| XM_005259913.1:c.685C>T | XP_005259970.1:p.Arg229Trp | |
| XM_005259913.2:c.685C>T | XP_005259970.1:p.Arg229Trp | |
| XM_024451518.1:c.-334C>T | XP_024307286.1:n.-334C>T | |
| NM_000528.4:c.685C>T MANE Select | NP_000519.2:p.Arg229Trp | |
| NM_001173498.2:c.685C>T | NP_001166969.1:p.Arg229Trp |